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Case 57 - Congenital Myopathies: X-Linked Myotubular Myopathy
from Myopathies
Jessica E. Hoogendijk, University Medical Center Utrecht, Marianne de Visser, Amsterdam University Medical Center, Pieter A. van Doorn, Erasmus MC, University Medical Center, Rotterdam, Erik H. Niks, Leiden University Medical Center
Book:

Neuromuscular Disease

Print publication:

19 December 2024, pp 238-239
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Summary

A boy was born at 33 weeks’ gestational age via caesarean delivery because of a transverse position and difficulties in obtaining an adequate cardiotocography. Pregnancy had been complicated by fetal growth restriction with an abdominal circumference at p10, and polyhydramnios. His mother had noticed a reduction in fetal movements the day before delivery. Immediately after birth, he was hypotonic, pale, bradycardic, and without spontaneous breathing. Resuscitation was started with bag and mask ventilation and thoracic compressions. Heart rate and oxygen levels quickly normalized. However, breathing remained insufficient. Arterial CO2 levels rose to 14.0 kPa (ref 4.7–6.4) and he was intubated. He was the first child of unrelated parents. His mother had been diagnosed with obesity and gestational diabetes. The maternal grandmother had a sister whose daughter had a son who had died two days after birth more than 20 years earlier.